NCT05126290

CTNNA1 Familial Expansion Study

CTNNA1 Familial Expansion (CAFÉ) Study

• Status: Recruiting
• Phase: —
• Study type: Observational
• Enrollment: 100 (estimated)
• Sponsor: Abramson Cancer Center at Penn Medicine · Academic / Other
• Sex: All
• Age: 18 Years
• Healthy volunteers: Not accepted

Summary

The goal of the CAFÉ Study is to determine the cancer risks associated with germline CTNNA1 loss-of-function variants.

Detailed description

The CAFÉ Study aims to determine the degree to which loss-of-function variants in the CTNNA1 gene are associated with hereditary cancers, including gastric cancer, breast cancer, as well as other cancers that may be associated with this gene. By obtaining personal and family history information from individuals who carry a CTNNA1 loss-of-function variant and their family members, this study will aim to better define CTNNA1 associated cancer risks and determine whether there is a genotype/phenotype correlation for CTNNA1 loss-of-function variants. This information will be important for the future cancer risk management of individuals who carry a CTNNA1 loss-of-function variant.

Conditions

• Cancer Gene Mutation
• Gastric Cancer
• Breast Cancer

Interventions

Type	Name	Description
OTHER	Collection of personal and family history from CAFÉ Study participants	Personal medical and genetic history, as well as relevant information about family history, will be collected from participants in the CAFÉ Study through an online data entry system

Timeline

• Start date: 2021-03-16
• Primary completion: 2028-01-01
• Completion: 2028-01-01
• First posted: 2021-11-19
• Last updated: 2026-02-05

Locations

1 site across 1 country: United States